G37E (p.Gly37Glu) variant of GATA1 (Erythroid transcription factor)
G37E (p.Gly37Glu) in GATA1 (Erythroid transcription factor) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.55 / 1. The record also includes population frequency data and structural context.
G37E (p.Gly37Glu) variant details
- p.Gly37Glu
- ExAC rs782697197
- gnomAD rs782697197
- Missense
- Variant Prioritization Score for Impact Estimate 0.555
- REVEL 0.46
- MetaLR 0.96
- MetaSVM 1.01
- CADD 22.40
- PolyPhen-2 0.65
- SIFT 0.14
- Most common in the South Asian population (allele frequency 1.9e-05)
- Structural context available